ORPHA:486
Autosomal dominant severe congenital neutropenia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
18
32.9th percentile
Trials
0
Interventional, condition-specific
Researchers
129
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary immunodeficiency disorder characterized by inheritance, absolute neutrophil counts below 0.5x10E9/L in the peripheral blood (on three separate occasions over a six month period), granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and early-onset, severe, recurrent bacterial infections.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008742
- UMLS:C4749612
- NCIT:C166155
Additional Mondo synonyms (1)
severe congenital neutropenia, autosomal dominant
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
18 matched papers (15 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 11 for broader category severe congenital neutropenia
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
18
18 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
18 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
15 in the last 10 years · high confidence · 32.9th percentile (publications denominator)
Phrase hits: 18 · MeSH hits: 0
Who's working on it?
129
Distinct author names in 18 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Lang S4 papers · 2022
Department of Medical Biochemistry and Molecular Biology, Saarland University, 66421 Homburg, Germany.
Papers in Europe PMC - 02Sicking M3 papers · 2022
Department of Medical Biochemistry and Molecular Biology, Saarland University, 66421 Homburg, Germany.
Papers in Europe PMC - 03Baker MJ2 papers · 2024
Department of Biochemistry and Pharmacology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Australia.
Papers in Europe PMC - 04Crameri JJ2 papers · 2024
Department of Biochemistry and Pharmacology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Australia.
Papers in Europe PMC - 05Frazier AE2 papers · 2024
Royal Children's Hospital and Department of Paediatrics, Murdoch Children's Research Institute, The University of Melbourne, Parkville, Australia.
Papers in Europe PMC - 06Hadzibeganovic D2 papers · 2022
Department of Medical Biochemistry and Molecular Biology, Saarland University, 66421 Homburg, Germany.
Papers in Europe PMC - 07Haßdenteufel S2 papers · 2021
Department of Molecular Genetics, Weizmann Institute of Science, Rehovot 7610001, Israel.
Papers in Europe PMC - 08Stojanovski D2 papers · 2024
Department of Biochemistry and Pharmacology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Australia.
Papers in Europe PMC - 09Thorburn DR2 papers · 2024
Royal Children's Hospital and Department of Paediatrics, Murdoch Children's Research Institute, The University of Melbourne, Parkville, Australia.
Papers in Europe PMC - 10Tirincsi A2 papers · 2022
Department of Medical Biochemistry and Molecular Biology, Saarland University, 66421 Homburg, Germany.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 11 trials are registered for severe congenital neutropenia, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
11 interventional trials matched severe congenital neutropenia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: severe congenital neutropenia
11
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Autosomal dominant severe congenital neutropenia" OR "severe congenital neutropenia, autosomal dominant"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant severe congenital neutropenia" OR "severe congenital neutropenia, autosomal dominant" OR "autosomal genetic disease" OR "constitutional neutropenia"
Recall-expansion terms: autosomal genetic disease, constitutional neutropenia
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"severe congenital neutropenia"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T14:00:29.701Z